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Recessive mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 ( EIF2AK4 ) gene, in either homozygous or compound‐heterozygous states, are strongly associated with PH, specifically in the context of pulmonary veno‐occlusive disease (PVOD), where they disrupt EIF2AK4 function and contribute to disease progression [133, 134]